A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the molecular mechanism of erythrocyte pyruvate kinase deficiency (PKD).</p><p><b>METHODS</b>Targeted sequence capture and next-generation sequencing (NGS) were used to detect the regions of exon and exon-intron boundarie of PKLR gene in a clinical suspected PKD patient. The protein function of mutant gene was forecasted by the SIFT and PolyPhen-2 databank, after the mutation of PKLR gene in the patient was detected by the NGS technology, its genotype was confirmed by Sanger sequencing.</p><p><b>RESULTS</b>The patient was found to have peculiar double heterozygous mutations: 661 G>A (Asp221Asn) of exon 5 and 1528 C>T (Arg510Ter) of exon 10, resulting in amino acid substitution Asp221Asn and Arg510Ter, these mutations were also further confirmed by Sanger sequencing. The complex mutations were infrequent and each of them was able to cause diseases.</p><p><b>CONCLUSION</b>The complex mutations of both 661 G>A and 1528 C>T of PKLR gene are the molecular mechanism of PKD. Simultaneous existance of above-mentioned complex mutations in PDK patient was never been previously reported at home and abroad.</p>

Correlation between ABO blood type gene and attention-deficit hyperactivity disorder in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the correlation between ABO blood type gene and attention-deficit hyperactivity disorder (ADHD) in children.</p><p><b>METHODS</b>ABO blood types were determined using glass sheet method in 96 children with ADHD and their parents. O gene was identified using polymerase chain reaction and restriction fragment length polymorphism in patients with A or B blood type. Haplotype-based haplotype relative risk (HHRR), transmission-disequilibrium test (TDT) and Chi-square test were used to examine the association between ABO gene and ADHD.</p><p><b>RESULTS</b>TDT results showed significant differences in the allele of ABO between the 96 children with ADHD and within-family controls (chi2=6.017, df=2, P< 0.05). Chi-square test results showed differences in the allele of A and B (chi2=3.289, df=1, P=0.07) as well as O and B (chi2=3.629, df=1, P=0.057 ) between ADHD children and within-family controls. The frequencies of O and A genes were higher than that of B gene in ADHD children.</p><p><b>CONCLUSIONS</b>There was correlation between ABO blood type gene and ADHD in children. The risk of ADHD is increased in the presence of alleles O and A, but the risk is reduced in the presence of allele B.</p>